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High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization

American journal of human genetics, 2005-02, Vol.76 (2), p.312-326

2005

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Epithelial to Mesenchymal Transition in Human Breast Cancer Can Provide a Nonmalignant Stroma

The American journal of pathology, 2003-02, Vol.162 (2), p.391-402

2003

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Human genetics, 2007-05, Vol.121 (3-4), p.501-509

2007

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A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth

European journal of oral sciences, 2007-08, Vol.115 (4), p.330-333

2007

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Genomic organization, transcript variants and comparative analysis of the human nucleoporin 155 ( NUP155) gene

Gene, 2002-04, Vol.288 (1), p.9-18

2002

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Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR

European journal of human genetics : EJHG, 2005-04, Vol.13 (4), p.475-485

2005

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Chimeric Twins

Human heredity, 2008-09, Vol.34 (2), p.127-130

2008

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Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate

Human mutation, 1994, Vol.3 (2), p.121-125

1994

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High-resolution mapping of genotype-phenotype relationships in cridu chat syndrome using array comparative genomic hybridization

American journal of human genetics, 2007-07, Vol.76 (2)

2007

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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Journal of medical genetics, 2000-11, Vol.37 (11), p.858-865

2000

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Mutations in autism susceptibility candidate 2

Human genetics, 2007-05, Vol.121 (3-4), p.501

2007

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Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

European journal of human genetics : EJHG, 2006-04, Vol.14 (4), p.410-417

2006

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Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24

Human molecular genetics, 1997-10, Vol.6 (11), p.1811-1816

1997

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Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features

American journal of human genetics, 1995-05, Vol.56 (5), p.1162-1172

1995

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The nevoid basal cell carcinoma syndrome: Sensitivity to ultraviolet and x-ray irradiation

Journal of the American Academy of Dermatology, 1987-10, Vol.17 (4), p.637-643

1987

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An epidemiological study of Hirschsprung's disease and additional anomalies

Acta Paediatrica, 1994-01, Vol.83 (1), p.68-71

1994

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Triploidy in man: Cytogenetical and clinical aspects

Human genetics, 1974-06, Vol.21 (2), p.103-125

Niebuhr, Erik

1974

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Localization of a Human Nucleoporin 155 Gene (NUP155) to the 5p13 Region and Cloning of Its cDNA

Genomics (San Diego, Calif.), 1999-04, Vol.57 (1), p.144-151

1999

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Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21

Human genetics, 1974-01, Vol.21 (1), p.99-101

Niebuhr, E

1974

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Extreme variant of the short arm of chromosome 15

Human genetics, 1996-06, Vol.97 (6), p.710-713

1996

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DISCRIMINANT ANALYSIS OF DERMATOGLYPHIC SOLE AND PALM PATTERNS IN DANISH CRI DU CHAT PROBANDS AND NORMAL CONTROLS

Journal of intellectual disability research, 1985-09, Vol.29 (3), p.281-288

1985

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Molecular cytogenetic analysis of a nontumorigenic human breast epithelial cell line that eventually turns tumorigenic: Validation of an analytical approach combining karyotyping, comparative genomic hybridization, chromosome painting, and single-locus fluorescence in situ hybridization

Genes chromosomes & cancer, 1997-09, Vol.20 (1), p.30-37

1997

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HYPERTONIA AND THE CAT-CRY SYNDROME

The Lancet (British edition), 1972-04, Vol.299 (7753), p.744-744

Niebuhr, Erik

1972

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Familial occurrence of Hirschsprung's disease

Clinical genetics, 1994-05, Vol.45 (5), p.231-235

1994

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Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition

American journal of medical genetics, 1999-01, Vol.82 (1), p.6-14

1999

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High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization

Epithelial to Mesenchymal Transition in Human Breast Cancer Can Provide a Nonmalignant Stroma

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth

Genomic organization, transcript variants and comparative analysis of the human nucleoporin 155 ( NUP155) gene

Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR

Chimeric Twins

Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate

High-resolution mapping of genotype-phenotype relationships in cridu chat syndrome using array comparative genomic hybridization

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Mutations in autism susceptibility candidate 2

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24

Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features

The nevoid basal cell carcinoma syndrome: Sensitivity to ultraviolet and x-ray irradiation

An epidemiological study of Hirschsprung's disease and additional anomalies

Triploidy in man: Cytogenetical and clinical aspects

Localization of a Human Nucleoporin 155 Gene (NUP155) to the 5p13 Region and Cloning of Its cDNA

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21

Extreme variant of the short arm of chromosome 15

DISCRIMINANT ANALYSIS OF DERMATOGLYPHIC SOLE AND PALM PATTERNS IN DANISH CRI DU CHAT PROBANDS AND NORMAL CONTROLS

Molecular cytogenetic analysis of a nontumorigenic human breast epithelial cell line that eventually turns tumorigenic: Validation of an analytical approach combining karyotyping, comparative genomic hybridization, chromosome painting, and single-locus fluorescence in situ hybridization

HYPERTONIA AND THE CAT-CRY SYNDROME

Familial occurrence of Hirschsprung's disease

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition

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